Publications:

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Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1 -p.R306C voltage-sensor variant.

Biorxiv : The Preprint Server For Biology

Kang, Seok Kyu SK; Hawkins, Nicole A NA; Echevarria-Cooper, Dennis M DM; Baker, Erin M EM; Dixon, Conor J CJ; Speakes, Nathan N; Kearney, Jennifer A JA

Publication Date: 2023-03-30

Variant appearance in text: KCNB1: R306C

PubMed Link: 37034689

Variant Present in the following documents:

• Main text
• nihpp-2023.03.29.534736v1.pdf

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: KCNB1: R306C

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: KCNB1: R306C

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: KCNB1: R306C

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: KCNB1: R306C

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder.

Frontiers In Pediatrics

Xiong, Juan J; Liu, Zhonghua Z; Chen, Shimeng S; Kessi, Miriam M; Chen, Baiyu B; Duan, Haolin H; Deng, Xiaolu X; Yang, Lifen L; Peng, Jing J; Yin, Fei F

Publication Date: 2021

Variant appearance in text: KCNB1: R306C

PubMed Link: 35071126

Variant Present in the following documents:

• Main text
• fped-09-755344.pdf

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Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

International Journal Of Molecular Sciences

Mayo, Sonia S; Gómez-Manjón, Irene I; Fernández-Martínez, Fco Javier FJ; Camacho, Ana A; Martínez, Francisco F; Benito-León, Julián J

Publication Date: 2021-05-25

Variant appearance in text: KCNB1: Arg306Cys

PubMed Link: 34070602

Variant Present in the following documents:

• Main text
• ijms-22-05609.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: KCNB1: 916C>T; R306C

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Frontiers In Genetics

Kessi, Miriam M; Chen, Baiyu B; Peng, Jing J; Tang, Yulin Y; Olatoutou, Eleonore E; He, Fang F; Yang, Lifen L; Yin, Fei F

Publication Date: 2020

Variant appearance in text: Kv2.1: R306C

PubMed Link: 32655623

Variant Present in the following documents:

• Main text
• fgene-11-00614.pdf

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Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.

Annals Of Neurology

Kang, Seok Kyu SK; Vanoye, Carlos G CG; Misra, Sunita N SN; Echevarria, Dennis M DM; Calhoun, Jeffrey D JD; O'Connor, John B JB; Fabre, Katarina L KL; McKnight, Dianalee D; Demmer, Laurie L; Goldenberg, Paula P; Grote, Lauren E LE; Thiffault, Isabelle I; Saunders, Carol C; Strauss, Kevin A KA; Torkamani, Ali A; van der Smagt, Jasper J; van Gassen, Koen K; Carson, Robert P RP; Diaz, Jullianne J; Leon, Eyby E; Jacher, Joseph E JE; Hannibal, Mark C MC; Litwin, Jessica J; Friedman, Neil R NR; Schreiber, Allison A; Lynch, Bryan B; Poduri, Annapurna A; Marsh, Eric D ED; Goldberg, Ethan M EM; Millichap, John J JJ; George, Alfred L AL; Kearney, Jennifer A JA

Publication Date: 2019-12

Variant appearance in text: KCNB1: R306C

PubMed Link: 31600826

Variant Present in the following documents:

• Main text

View BVdb publication page

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: KCNB1: 916C>T; Arg306Cys

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

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Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.

Bmc Genetics

Kessi, Miriam M; Peng, Jing J; Yang, Lifen L; Xiong, Juan J; Duan, Haolin H; Pang, Nan N; Yin, Fei F

Publication Date: 2018-07-06

Variant appearance in text: KCNB1: R306C

PubMed Link: 29976148

Variant Present in the following documents:

• Main text
• 12863_2018_Article_628.pdf

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Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

Neurology. Genetics

Marini, Carla C; Romoli, Michele M; Parrini, Elena E; Costa, Cinzia C; Mei, Davide D; Mari, Francesco F; Parmeggiani, Lucio L; Procopio, Elena E; Metitieri, Tiziana T; Cellini, Elena E; Virdò, Simona S; De Vita, Dalila D; Gentile, Mattia M; Prontera, Paolo P; Calabresi, Paolo P; Guerrini, Renzo R

Publication Date: 2017-12

Variant appearance in text: KCNB1: 916C>T

PubMed Link: 29264397

Variant Present in the following documents:

• Main text
• NG2017005967.pdf

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: KCNB1: R306C

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 7

View BVdb publication page

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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

Jama Neurology

de Kovel, Carolien G F CGF; Syrbe, Steffen S; Brilstra, Eva H EH; Verbeek, Nienke N; Kerr, Bronwyn B; Dubbs, Holly H; Bayat, Allan A; Desai, Sonal S; Naidu, Sakkubai S; Srivastava, Siddharth S; Cagaylan, Hande H; Yis, Uluc U; Saunders, Carol C; Rook, Martin M; Plugge, Susanna S; Muhle, Hiltrud H; Afawi, Zaid Z; Klein, Karl-Martin KM; Jayaraman, Vijayakumar V; Rajagopalan, Ramakrishnan R; Goldberg, Ethan E; Marsh, Eric E; Kessler, Sudha S; Bergqvist, Christina C; Conlin, Laura K LK; Krok, Bryan L BL; Thiffault, Isabelle I; Pendziwiat, Manuela M; Helbig, Ingo I; Polster, Tilman T; Borggraefe, Ingo I; Lemke, Johannes R JR; van den Boogaardt, Marie-José MJ; Møller, Rikke S RS; Koeleman, Bobby P C BPC

Publication Date: 2017-10-01

Variant appearance in text: KCNB1: R306C

PubMed Link: 28806457

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: KCNB1: R306C

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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When Inhibiting Repetitive Firing is Pro-Epileptic.

Epilepsy Currents

Kearney, Jennifer A JA

Publication Date: 2016

Variant appearance in text: KCNB1: R306C

PubMed Link: 27073348

Variant Present in the following documents:

• Main text

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De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.

Scientific Reports

Saitsu, Hirotomo H; Akita, Tenpei T; Tohyama, Jun J; Goldberg-Stern, Hadassa H; Kobayashi, Yu Y; Cohen, Roni R; Kato, Mitsuhiro M; Ohba, Chihiro C; Miyatake, Satoko S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Miyake, Noriko N; Fukuda, Atsuo A; Matsumoto, Naomichi N

Publication Date: 2015-10-19

Variant appearance in text: KCNB1: 916C>T

PubMed Link: 26477325

Variant Present in the following documents:

• Main text
• srep15199.pdf

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: KCNB1: R306C

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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